title: Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation.
abstract: A cohort of 338 patients diagnosed with myeloproliferative neoplasms was investigated by conventional cytogenetics and evaluated for the presence of the JAK2 V617F mutation. A t(1;9)(p10;q10) in addition to two extra der(1;9)(q10;p10) chromosomes was observed in two patients of essential thrombocythemia that transformed to acute myelogenous leukemia or to myelofibrosis. These findings suggest that the presence of extra derivative chromosomes der(1q;9p) in combination with the JAK2 V617F mutation may play a role in the progression of myeloproliferative neoplasms and supports the use of cytogenetics in the follow-up of the disease.
authors.affiliation: GenPath, BioReference Laboratories, Elmwood Park, NJ, USA. ameredith@bioreference.com
authors.forename: Annette
authors.initials: A
authors.lastname: Leon
authors.forename: John F
authors.initials: JF
authors.lastname: Staropoli
authors.forename: Jesus M
authors.initials: JM
authors.lastname: Hernandez
authors.forename: Janina A
authors.initials: JA
authors.lastname: Longtine
authors.forename: Frank C
authors.initials: FC
authors.lastname: Kuo
authors.forename: Paola
authors.initials: P
authors.lastname: Dal Cin
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution / Q000235:genetics / Q000502:physiology; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D015331:Cohort Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics / Q000502:physiology; D010649:Phenylalanine / Q000235:genetics; D012008:Recurrence; D013920:Thrombocythemia, Essential / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic; D014633:Valine / Q000235:genetics
chemical_list: D010649:Phenylalanine; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D014633:Valine